Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations von Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization von Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, Saunier, Sophie

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KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling von Schou, Kenneth B., Mogensen, Johanne B., Morthorst, Stine K., Nielsen, Brian S., Aleliunaite, Aiste, Serra-Marques, Andrea, Fürstenberg, Nicoline, Saunier, Sophie, Bizet, Albane A., Veland, Iben R., Akhmanova, Anna, Christensen, Søren T., Pedersen, Lotte B.

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Overexpression of CD109 in the Epidermis Differentially Regulates ALK1 Versus ALK5 Signaling and Modulates Extracellular Matrix Synthesis in the Skin von Vorstenbosch, Joshua, Nguyen, Christopher M., Zhou, Shufeng, Seo, You Jung, Siblini, Aya, Finnson, Kenneth W., Bizet, Albane A., Tran, Simon D., Philip, Anie

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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans von Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm

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DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis von Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau-Frachon, Sophie, Jeanpierre, Cécile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole-Feysot, Christine, Nitschke, Patrick, Pariente, Danièle, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, Jacquemin, Emmanuel, Henrion-Caude, Alexandra, Saunier, Sophie

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The TGF-β co-receptor, CD109, promotes internalization and degradation of TGF-β receptors von Bizet, Albane A., Liu, Kai, Tran-Khanh, Nicolas, Saksena, Anshuman, Vorstenbosch, Joshua, Finnson, Kenneth W., Buschmann, Michael D., Philip, Anie

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CD109-mediated degradation of TGF-β receptors and inhibition of TGF-β responses involve regulation of SMAD7 and Smurf2 localization and function von Bizet, Albane A., Tran-Khanh, Nicolas, Saksena, Anshuman, Liu, Kai, Buschmann, Michael D., Philip, Anie

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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS von Huynh Cong, Evelyne, Bizet, Albane A, Boyer, Olivia, Woerner, Stéphanie, Gribouval, Olivier, Filhol, Emilie, Arrondel, Christelle, Thomas, Sophie, Silbermann, Flora, Canaud, Guillaume, Hachicha, Jamil, Ben Dhia, Nasr, Peraldi, Marie-Noëlle, Harzallah, Kais, Iftene, Daouia, Daniel, Laurent, Willems, Marjolaine, Noel, Laure-Hélène, Bole-Feysot, Christine, Nitschké, Patrick, Gubler, Marie-Claire, Mollet, Géraldine, Saunier, Sophie, Antignac, Corinne

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Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease von Schmidts, Miriam, Frank, Valeska, Eisenberger, Tobias, al Turki, Saeed, Bizet, Albane A., Antony, Dinu, Rix, Suzanne, Decker, Christian, Bachmann, Nadine, Bald, Martin, Vinke, Tobias, Toenshoff, Burkhard, Di Donato, Natalia, Neuhann, Theresa, Hartley, Jane L., Maher, Eamonn R., Bogdanović, Radovan, Peco-Antić, Amira, Mache, Christoph, Hurles, Matthew E., Joksić, Ivana, Guć-Šćekić, Marija, Dobricic, Jelena, Brankovic-Magic, Mirjana, Bolz, Hanno J., Pazour, Gregory J., Beales, Philip L., Scambler, Peter J., Saunier, Sophie, Mitchison, Hannah M., Bergmann, Carsten

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CD109 release from the cell surface in human keratinocytes regulates TGF-β receptor expression, TGF-β signalling and STAT3 activation: relevance to psoriasis von Litvinov, Ivan V., Bizet, Albane A., Binamer, Yousef, Jones, David A., Sasseville, Denis, Philip, Anie

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Identification of CD109 as part of the TGF-β receptor system in human keratinocytes von Finnson, Kenneth W, Tam, Betty Y.Y, Liu, Kai, Marcoux, Anne, Lepage, Pierre, Roy, Stephane, Bizet, Albane A, Philip, Anie

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Should we reconsider the VF amplitude threshold for delivering a shock? von Menetre, Sarah, Hong Tuan Ha, Vivien, Frattini, Benoit, Frattini, Benoit, Miron de l'Espinay, Albane, Didon, Jean Philippe, Jost, Daniel, Derkenne, Clément, Jost, Daniel, Derkenne, Clément, Frattini, Benoit, Hong Tuan Ha, Vivien, Lemoine, Frédéric, Salome, Marina, Trichereau, Julie, Corcostegui, Simon-Pierre, Lemoine, Sabine, Vial, Valentin, Dessertaine, Théo, Miron De L’espinay, Albane, Travers, Stéphane

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Viral co-infections among SARS-CoV-2-infected children and infected adult household contacts von Pigny, Fiona, Wagner, Noémie, Rohr, Marie, Mamin, Aline, Cherpillod, Pascal, Posfay-Barbe, Klara M., Kaiser, Laurent, Eckerle, Isabella, L’Huillier, Arnaud G.

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Le droit international de la reconnaissance, un instrument de décolonisation et de refondation du droit international ? von Geslin, Albane, Tourme-Jouannet, Emmanuelle

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Ceftriaxone and Cefotaxime Have Similar Effects on the Intestinal Microbiota in Human Volunteers Treated by Standard-Dose Regimens von Burdet, Charles, Grall, Nathalie, Linard, Morgane, Bridier-Nahmias, Antoine, Benhayoun, Michèle, Bourabha, Khadija, Magnan, Mélanie, Clermont, Olivier, d'Humières, Camille, Tenaillon, Olivier, Denamur, Erick, Massias, Laurent, Tubiana, Sarah, Alavoine, Loubna, Andremont, Antoine, Mentré, France, Duval, Xavier

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Safety and tolerability of a single administration of AR-301, a human monoclonal antibody, in ICU patients with severe pneumonia caused by Staphylococcus aureus: first-in-human tri... von François, Bruno, Mercier, Emmanuelle, Gonzalez, Céline, Asehnoune, Karim, Nseir, Saad, Fiancette, Maud, Desachy, Arnaud, Plantefève, Gaëtan, Meziani, Ferhat, de Lame, Paul-André, Laterre, Pierre-François

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Autoimmune disorders and quadrivalent human papillomavirus vaccination of young female subjects von Grimaldi‐Bensouda, L., Guillemot, D., Godeau, B., Bénichou, J., Lebrun‐Frenay, C., Papeix, C., Labauge, P., Berquin, P., Penfornis, A., Benhamou, P.‐Y., Nicolino, M., Simon, A., Viallard, J.‐F., Costedoat‐Chalumeau, N., Courcoux, M.‐F., Pondarré, C., Hilliquin, P., Chatelus, E., Foltz, V., Guillaume, S., Rossignol, M., Abenhaim, L.

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Neuropathic Aspects of Persistent Postsurgical Pain: A French Multicenter Survey With a 6-Month Prospective Follow-Up von Dualé, Christian, Ouchchane, Lemlih, Schoeffler, Pierre, Dubray, Claude

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The concept of immunothrombosis in pancreas transplantation von Masset, Christophe, Drillaud, Nicolas, Ternisien, Catherine, Degauque, Nicolas, Gerard, Nathalie, Bruneau, Sarah, Branchereau, Julien, Blancho, Gilles, Mesnard, Benoit, Brouard, Sophie, Giral, Magali, Cantarovich, Diego, Dantal, Jacques, Bogdan Catargi, Moreau, Karine, Andres, Axel, Berishvili, Ekaterine, Haidar, Fadi, Wassmer, Charles-Henri, Benhamou, Pierre Yves, Lablanche, Sandrine, Malvezzi, Paolo, Rachel Tetaz, Quentin Perrier, Chetboun, Mikael, Frimat, Marie, Kerr-Conte, Julie, Defrance, Frédérique, Le Mapihan, Kristell, Maanaoui, Mehdi, Pattou, François, Vantyghem, Marie-Christine, Badet, Lionel, Berney, Thierry, Buron, Fanny, Matillon, Xavier, Morelon, Emmanuel, Reffet, Sophie, Thaunat, Olivier, Garrigue, Valérie, Panaro, Fabrizio, Renard, Eric, Serre, Jean-Emmanuel, Blancho, Gilles, Branchereau, Julien, Cantarovich, Diego, Chailloux, Lucy, Masset, Christophe, Mahot-Moreau, Pascale, Mesnard, Benoit, Armanet, Mathieu, Cattan, Pierre, Ciacio, Oriana, Durrbach, Antoine, Elias, Michelle, Gaudez, François, Pittau, Gabriella, Riveline, Jean-Pierre, Sacunha, Antonio, Sartorius, Albane, Snanoudj, Renaud, Vidal-Trecan, Tiphaine, Caillard, Sophie, Kessler, Laurence, Lejay, Anne, Cuellar, Emmanuel, Duffas, Jean-Pierre, Esposito, Laure, Hanaire, Hélène, Kamar, Nassim, Prudhomme, Thomas, Buchler, Mathias, Gueguen, Juliette

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